Mutagenetix > Incidental Mutation

Incidental Mutation 'R0571:Slc22a18'

46459

Institutional Source

Beutler Lab

Gene Symbol

Slc22a18

Ensembl Gene

ENSMUSG00000000154

Gene Name

solute carrier family 22 (organic cation transporter), member 18

Synonyms

Orctl2, TSSC5, IMPT1, BWSCR1A, Impt1, Slc22a1l, BWR1A, p45-BWR1A

MMRRC Submission

038762-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R0571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143027502-143053071 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 143045598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052348] [ENSMUST00000105917] [ENSMUST00000141988] [ENSMUST00000145943] [ENSMUST00000150791]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000052348

SMART Domains

Protein: ENSMUSP00000056082
Gene: ENSMUSG00000000154

Domain	Start	End	E-Value	Type
Pfam:MFS_1	14	339	1.1e-31	PFAM
Pfam:MFS_1	229	410	5.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105917

SMART Domains

Protein: ENSMUSP00000101537
Gene: ENSMUSG00000000154

Domain	Start	End	E-Value	Type
Pfam:MFS_1	14	337	7.8e-32	PFAM
Pfam:MFS_3	66	346	6.5e-9	PFAM
Pfam:MFS_1	229	410	3.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141988

Predicted Effect

probably benign
Transcript: ENSMUST00000145943

SMART Domains

Protein: ENSMUSP00000115345
Gene: ENSMUSG00000000154

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150791

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms' tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Several alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2015]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	C	T	14: 54,500,706 (GRCm39)	T165I	possibly damaging	Het
Acsl5	A	G	19: 55,277,343 (GRCm39)		probably benign	Het
Actl6b	C	A	5: 137,565,046 (GRCm39)		probably benign	Het
Atg13	T	C	2: 91,509,063 (GRCm39)		probably benign	Het
Cabyr	A	G	18: 12,883,909 (GRCm39)	E132G	probably damaging	Het
Cadps2	C	T	6: 23,583,411 (GRCm39)	V389I	probably damaging	Het
Capn2	C	T	1: 182,298,325 (GRCm39)	V647I	probably benign	Het
Card10	G	T	15: 78,671,601 (GRCm39)	P621Q	possibly damaging	Het
Catsperb	C	G	12: 101,569,033 (GRCm39)	H902D	possibly damaging	Het
Cers3	A	G	7: 66,435,805 (GRCm39)	M255V	possibly damaging	Het
Cfh	T	C	1: 140,030,071 (GRCm39)		probably null	Het
Chd3	A	C	11: 69,252,495 (GRCm39)		probably null	Het
Chpf2	G	T	5: 24,795,425 (GRCm39)	R316L	probably damaging	Het
Clca3a1	T	A	3: 144,713,550 (GRCm39)	N694Y	probably damaging	Het
Cplane1	A	G	15: 8,289,277 (GRCm39)	D2909G	unknown	Het
Ctbp2	G	A	7: 132,616,534 (GRCm39)	L44F	probably damaging	Het
Cttnbp2	T	C	6: 18,381,102 (GRCm39)	M1365V	probably benign	Het
D130052B06Rik	G	A	11: 33,573,922 (GRCm39)	R173H	probably benign	Het
Dchs1	A	G	7: 105,421,203 (GRCm39)	F406L	probably damaging	Het
Ddx43	T	A	9: 78,321,145 (GRCm39)	N384K	possibly damaging	Het
Drd5	G	A	5: 38,477,270 (GRCm39)	V88M	probably damaging	Het
Eefsec	A	T	6: 88,274,881 (GRCm39)	F361Y	probably benign	Het
Epb41	T	C	4: 131,717,215 (GRCm39)	D313G	probably damaging	Het
Etl4	T	C	2: 20,748,580 (GRCm39)	M104T	probably damaging	Het
Fabp7	A	T	10: 57,661,637 (GRCm39)	T37S	probably benign	Het
Fam186b	T	C	15: 99,184,834 (GRCm39)	T30A	probably benign	Het
Fam83d	G	A	2: 158,627,611 (GRCm39)	W433*	probably null	Het
Fmnl2	A	T	2: 52,944,503 (GRCm39)	T161S	probably benign	Het
Ghsr	C	T	3: 27,426,165 (GRCm39)	R74C	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Gtpbp4	A	T	13: 9,040,722 (GRCm39)		probably benign	Het
Hamp2	A	G	7: 30,623,511 (GRCm39)	L17P	possibly damaging	Het
Heatr1	C	A	13: 12,445,121 (GRCm39)	S1581R	probably damaging	Het
Hpf1	T	C	8: 61,353,147 (GRCm39)	V176A	probably benign	Het
Hydin	T	A	8: 111,240,735 (GRCm39)		probably null	Het
Ighg2c	G	A	12: 113,252,382 (GRCm39)	Q57*	probably null	Het
Itgb4	A	G	11: 115,870,594 (GRCm39)	N141S	possibly damaging	Het
Kif13b	G	T	14: 64,988,977 (GRCm39)	R786L	probably damaging	Het
Lhx3	C	A	2: 26,091,136 (GRCm39)	W391L	probably damaging	Het
Map1s	T	A	8: 71,365,551 (GRCm39)	V152D	probably damaging	Het
Map4	T	C	9: 109,865,834 (GRCm39)	M608T	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mfn1	T	C	3: 32,615,621 (GRCm39)	I328T	probably damaging	Het
Mif-ps9	G	A	19: 56,743,675 (GRCm39)		noncoding transcript	Het
Myh4	A	T	11: 67,141,157 (GRCm39)	I740F	possibly damaging	Het
Neo1	A	G	9: 58,893,069 (GRCm39)	V191A	probably benign	Het
Nfatc4	T	C	14: 56,067,485 (GRCm39)	V565A	probably damaging	Het
Nrxn2	G	C	19: 6,523,563 (GRCm39)	E525D	probably damaging	Het
Or12k8	T	C	2: 36,975,346 (GRCm39)	H138R	probably benign	Het
Pcdhb12	A	T	18: 37,570,261 (GRCm39)	D469V	probably damaging	Het
Pcdhb6	G	T	18: 37,468,167 (GRCm39)	V363L	probably benign	Het
Pkd1l2	T	C	8: 117,808,957 (GRCm39)	T78A	probably benign	Het
Primpol	T	G	8: 47,034,674 (GRCm39)	D418A	probably damaging	Het
Rbm12b1	G	A	4: 12,146,248 (GRCm39)	S740N	probably benign	Het
Rpe65	T	C	3: 159,305,986 (GRCm39)	L15P	probably damaging	Het
Rxrb	CGCGGCGGCGGCGGCGGCGGC	CGCGGCGGCGGCGGCGGC	17: 34,251,106 (GRCm39)		probably benign	Het
Sectm1a	A	G	11: 120,959,928 (GRCm39)		probably benign	Het
Sft2d1	C	A	17: 8,545,782 (GRCm39)		probably benign	Het
Slu7	G	A	11: 43,332,405 (GRCm39)		probably null	Het
Smc4	T	C	3: 68,931,622 (GRCm39)	V572A	probably damaging	Het
Spire2	T	A	8: 124,080,855 (GRCm39)	I33N	probably damaging	Het
Tbck	T	A	3: 132,458,403 (GRCm39)	C678S	probably damaging	Het
Tnrc6b	T	C	15: 80,797,539 (GRCm39)	V1362A	probably damaging	Het
Ttn	T	C	2: 76,570,326 (GRCm39)	K25110E	possibly damaging	Het
Ugt2b35	A	G	5: 87,148,793 (GRCm39)	S15G	possibly damaging	Het
Upf3a	T	A	8: 13,842,184 (GRCm39)	I200K	probably damaging	Het
Vill	G	C	9: 118,899,701 (GRCm39)	G295A	possibly damaging	Het
Vmn1r191	A	T	13: 22,363,217 (GRCm39)	V179D	probably damaging	Het
Vmn2r74	T	C	7: 85,601,629 (GRCm39)	T670A	probably damaging	Het
Zfp169	T	C	13: 48,643,166 (GRCm39)	T654A	possibly damaging	Het
Zfp646	A	G	7: 127,481,138 (GRCm39)	E1105G	probably damaging	Het
Zyg11b	A	T	4: 108,117,239 (GRCm39)	Y334N	probably damaging	Het

Other mutations in Slc22a18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01657:Slc22a18	APN	7	143,052,837 (GRCm39)	missense	probably damaging	1.00
IGL01888:Slc22a18	APN	7	143,033,053 (GRCm39)	missense	probably damaging	1.00
IGL02458:Slc22a18	APN	7	143,046,574 (GRCm39)	splice site	probably benign
IGL02626:Slc22a18	APN	7	143,052,837 (GRCm39)	missense	probably damaging	1.00
PIT4810001:Slc22a18	UTSW	7	143,046,668 (GRCm39)	missense	probably benign	0.00
R0294:Slc22a18	UTSW	7	143,046,578 (GRCm39)	critical splice acceptor site	probably null
R1951:Slc22a18	UTSW	7	143,029,984 (GRCm39)	missense	probably damaging	1.00
R1953:Slc22a18	UTSW	7	143,029,984 (GRCm39)	missense	probably damaging	1.00
R2352:Slc22a18	UTSW	7	143,051,152 (GRCm39)	missense	probably benign	0.02
R3900:Slc22a18	UTSW	7	143,033,507 (GRCm39)	missense	probably damaging	1.00
R5317:Slc22a18	UTSW	7	143,052,896 (GRCm39)	missense	probably damaging	1.00
R5428:Slc22a18	UTSW	7	143,033,082 (GRCm39)	missense	probably damaging	1.00
R7672:Slc22a18	UTSW	7	143,044,557 (GRCm39)	missense	probably damaging	1.00
R7684:Slc22a18	UTSW	7	143,044,577 (GRCm39)	missense	probably benign	0.00
R7688:Slc22a18	UTSW	7	143,033,560 (GRCm39)	missense	probably damaging	1.00
R8130:Slc22a18	UTSW	7	143,052,911 (GRCm39)	missense	probably damaging	1.00
R8443:Slc22a18	UTSW	7	143,051,123 (GRCm39)	missense	probably damaging	0.96
R9308:Slc22a18	UTSW	7	143,044,617 (GRCm39)	missense	probably benign	0.13
R9784:Slc22a18	UTSW	7	143,046,678 (GRCm39)	missense	probably benign	0.02
Z1177:Slc22a18	UTSW	7	143,050,779 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAGCTCTAAGCATGAGGGACAAG -3'
(R):5'- CTGTGGTAGCAATTCAGAAGGGGAC -3'

Sequencing Primer
(F):5'- AGGCTGGAAGCCAGAGC -3'
(R):5'- AGGACTCAGCCTCCCTG -3'

Posted On

2013-06-11